Imprecise excision of the progenitor insertion, resulting in a 16.5kb deletion that removes all of the Fife gene except for the first 11 amino acid residues of isoform 3 and the splice donor site for isoforms 1 and 2. An ectopic splice event occurs in the mutants between exons 3 and 13 that can potentially be translated producing an ectopic isoform containing only the C2A and C2B domains.
Fifeex1027/Df(3L)Exel6091 transheterozygous third instar larvae exhibit defective neurotransmission across neuromuscular junctions, as assessed by decreased excitatory junction potential amplitude and decreased quantal content as compared to controls, and defective neuromuscular junction active zones, as shown by a significant decrease in the width of active zone T-bars, as compared to controls.
The neuromuscular junctions of Fifeex1027 homozygous third instar larvae present an impaired synaptic probability of release compared to controls, as shown by the significant increase in failure to respond to presynaptic stimuli.
The neurotransmission across neuromuscular junctions of FifeAC/Fifeex1027 transheterozygous third instar larvae occurs with similar spontaneous miniature excitatory junction potentials, but decreased excitatory junction potentials and decreased quantal content, as compared to controls.
Synaptic area at the neuromuscular junction (NMJ) is normal in homozygous and Fifeex1027/Df(3L)BSC412 third instar larvae. The number of active zones/NMJ and average active zone (AZ) length is also normal in these animals. However, a number of ultrastructural defects are seen in AZ architecture in Fifeex1027/Df(3L)BSC412 third instar larvae. Detachments of the pre-synaptic membrane, or membrane ruffling, are seen in 91.7% of cases and those AZs with membrane defects are on average ruffled along 44% of their length. Non-membrane associated electron-dense structures of variable morphology that are capable of clustering synaptic vesicles away from AZs are seen in 12.1% of cases. There is an approximately 20% decrease in vesicle number at the mutant AZs compared to wild type, while total vesicle density is unaffected in the mutant boutons.
Frequency and amplitude of the miniature excitatory junction potentials (EJPs) at the neuromuscular junction are normal in Fifeex1027/Df(3L)BSC412 third instar larvae. However, evoked EJPs and quantal content are significantly decreased compared to wild type by in homozygous and Fifeex1027/Df(3L)BSC412 larvae.
Homozygous and Fifeex1027/Df(3L)BSC412 females produce, but fail to lay, eggs.
Homozygous and Fifeex1027/Df(3L)BSC412 adults show significantly reduced walking activity compared to controls.
Fifeex1027/Df(3L)BSC412 is rescued by Scer\GAL4elav-C155/FifeUAS.Venus
Fifeex1027/Df(3L)BSC412 is rescued by Scer\GAL4elav-C155/FifeUAS.cBa
The decreased evoked excitatory junctional potential and quantal content seen at the neuromuscular junction in Fifeex1027/Df(3L)BSC412 third instar larvae and reduced walking activity of Fifeex1027/Df(3L)BSC412 adults are completely rescued by expression of FifeScer\UAS.cBa under the control of Scer\GAL4elav-C155.
The reduced walking activity of Fifeex1027/Df(3L)BSC412 adults are completely rescued by expression of FifeScer\UAS.T:Avic\GFP-YFP.Venus under the control of Scer\GAL4elav-C155.